Walker-Warburg syndrome

Summary

DOID:0050560 - Walker-Warburg syndrome

Disease Ontology Definition:n_a

Synonyms: HARD syndrome, cerebroocular dysplasia-muscular dystrophy syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pomt1, pomgnt1, fkrp, fktn, pomgnt2, pomk, pomt2, b4gat1, rxylt1, b3galnt2, crppa, dag1, large1, col4a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019523 - obsolete Walker-Warburg syndrome

MONDO:0019523 - obsolete Walker-Warburg syndrome

OMIM:

OMIM:236670 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
OMIM:253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3

OMIM:236670 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1

OMIM:253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): congenital muscular dystrophy (is_a)